A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509596



Internal ID15825622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11400055..11442730hg38UCSC Ensembl
Outerchr16:11493911..11536586hg19UCSC Ensembl
Outerchr16:11401412..11444087hg18UCSC Ensembl
Outerchr16:11401412..11444087hg17UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg383345
hg193345
hg183345
hg173345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623685
SamplesNA18994
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509596
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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